Publications by authors named "M Martin-Fernandez"
Article Synopsis
- Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
- This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
- The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
Objective: To analyse the characteristics of articles published on the competencies, abilities, knowledge and education that nurses should have to be able to communicate, inform, disseminate and/or be an informative source in mass media and social media.
Design: This bibliometric study involved a comprehensive search of two databases, PubMed and Scopus. The search terms included 'nursing', 'communication', and 'mass media', along with their synonyms.
(1) Background: Intimate partner violence (IPV) remains a pervasive issue, particularly among adolescents. Its prevalence is still high despite intervention efforts, especially for younger generations. Empathy and sexism are factors linked with IPV that have shown gender differences.
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- A significant number of patients with metabolic dysfunction-associated steatotic liver disease (MASLD) show indeterminate results from vibration-controlled transient elastography (VCTE), prompting the need for better diagnostic methods for significant fibrosis.
- A large study, involving 1196 MASLD patients from various centers, developed an algorithm that used liver stiffness measurements (LSM) and controlled attenuation parameters (CAP) to accurately identify significant fibrosis.
- The algorithm demonstrated high sensitivity and specificity in diagnosing significant fibrosis, potentially helping to identify treatment candidates for MASLD by re-allocating patients based on their risk levels.
The degeneration of spiral ganglion neurons (SGNs), which convey auditory signals from hair cells to the brain, can be a primary cause of sensorineural hearing loss (SNHL) or can occur secondary to hair cell loss. Emerging therapies for SNHL include the replacement of damaged SGNs using stem cell-derived otic neuronal progenitors (ONPs). However, the availability of renewable, accessible, and patient-matched sources of human stem cells is a prerequisite for successful replacement of the auditory nerve.
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